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rs121912917

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912917(A;A)
Make rs121912917(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position189008952
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912917
ebirs121912917
HLIrs121912917
Exacrs121912917
Varsomers121912917
Maprs121912917
PheGenIrs121912917
hapmaprs121912917
1000 genomesrs121912917
hgdprs121912917
ensemblrs121912917
gopubmedrs121912917
geneviewrs121912917
scholarrs121912917
googlers121912917
pharmgkbrs121912917
gwascentralrs121912917
openSNPrs121912917
23andMers121912917
23andMe allrs121912917
SNP Nexus

SNPshotrs121912917
SNPdbers121912917
MSV3drs121912917
GWAS Ctlgrs121912917
Max Magnitude0
OMIM120180
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121912917(A,T;A,T)
Alt rs121912917(A,T;A,T)
Reference rs121912917(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189873678G>A; NC_000002.11:g.189873678G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1 OMIM Allelic Variant
CLNACC RCV000018756.28, RCV000087419.1,